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Table 2 Nucleotide alterations in the intron regions of four genes in the DNA mismatch repair system in granulosa cell tumor

From: PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor

Gene

Nucleotide

Alteration

Zygote

Intron

GenBank

MLH1

37259

1 base (A) deletion

Heterozygote

12

NG_007109.2

MLH1

59246

C > G

Heterozygote

14

NG_007109.2

MSH2

10262

1 base (A) deletion

Heterozygote

1

NG_007110.2

MSH2

16320

4 bases (AAAA) deletion

Heterozygote

4

NG_007110.2

MSH2

65062

2 bases (AA) insertion

Homozygote

9

NG_007110.2

MSH2

68697

G > A

Heterozygote

10

NG_007110.2

MSH2

78202

1 base (A) deletion

Homozygote

12

NG_007110.2

MSH2

78234

T > C

Heterozygote

12

NG_007110.2

MSH6

5480

G > A

Heterozygote

1

NG_007111.1

MSH6

25553

A > T

Homozygote

5

NG_007111.1

MSH6

27596

4 bases (ATCT) deletion

Homozygote

7

NG_007111.1

MSH6

28266

C > G

Homozygote

8

NG_007111.1

PMS2

15016

A > G

Heterozygote

6

NG_008466.1

PMS2

31112

G > A

Heterozygote

11

NG_008466.1

PMS2

31334

A > G

Heterozygote

12

NG_008466.1

PMS2

35294

T > C

Heterozygote

12

NG_008466.1